Scientia, Dipòsit d’Informació Digital del Departament de Salut
Not a member yet
12576 research outputs found
Sort by
Pla d’atenció a les persones afectades per esclerosi lateral amiotròfica de Catalunya
Full text linkEsclerosi lateral amiotròfica (ELA); Atenció integral; PlanificacióEsclerosidad lateral amiotrófica (ELA); Atención integral; PlanificaciónAmyotrophic lateral sclerosis (ALS); Comprehensive care; PlanningEl PLAELACAT, impulsat pel Departament de Salut de la Generalitat de Catalunya, és el model estratègic per a l’atenció integral a les persones amb esclerosi lateral amiotròfica (ELA). Aquesta malaltia neurodegenerativa, de ràpida evolució i amb un alt impacte sociosanitari, requereix una resposta coordinada, multidisciplinària i centrada en la persona.
El Pla s’emmarca en la Llei 3/2024 i en l’Estratègia Nacional de Malalties Neurodegeneratives, i té com a objectiu garantir una atenció de qualitat, equitativa, eficaç i de proximitat al llarg de totes les fases de la malaltia. Per això, estableix un model d’atenció integral i integrat, amb diagnòstic precoç, seguiment continuat, suport al final de la vida i acompanyament emocional i social a les persones afectades i als seus cuidadors.El PLAELACAT, impulsado por el Departamento de Salud de la Generalitat de Cataluña, es el modelo estratégico para la atención integral a las personas con esclerosis lateral amiotrófica (ELA). Esta enfermedad neurodegenerativa, de rápida evolución y con un alto impacto sociosanitario, requiere una respuesta coordinada, multidisciplinar y centrada en la persona.
El Plan se enmarca en la Ley 3/2024 y en la Estrategia Nacional de Enfermedades Neurodegenerativas, y tiene como objetivo garantizar una atención de calidad, equitativa, eficaz y de proximidad a lo largo de todas las fases de la enfermedad. Para ello, establece un modelo de atención integral e integrada, con diagnóstico precoz, seguimiento continuado, apoyo al final de la vida y acompañamiento emocional y social a las personas afectadas y a sus cuidadores.The PLAELACAT, promoted by the Department of Health of the Government of Catalonia, is the strategic model for comprehensive care for people with amyotrophic lateral sclerosis (ALS). This neurodegenerative disease, which progresses rapidly and has a high social and health impact, requires a coordinated, multidisciplinary, and person-centered response.
The Plan is framed within Law 3/2024 and the National Strategy for Neurodegenerative Diseases, and aims to ensure high-quality, equitable, effective, and close-to-home care throughout all stages of the disease. To this end, it establishes an integrated and comprehensive care model that includes early diagnosis, continuous follow-up, end-of-life support, and emotional and social assistance for affected individuals and their caregivers
The Effect of Probiotics on Preterm Birth Rates in Pregnant Women After a Threatened Preterm Birth Episode (The PROPEV Trial)
Full text linkMicrobiota; Preterm birth; ProbioticsMicrobiota; Parto prematuro; ProbióticosMicrobiota; Part prematur; ProbiòticsIntroduction: Preterm birth is the leading cause of perinatal mortality worldwide, with prevalence rates showing little reduction. Although mortality rates have decreased, morbidity rates remain concerningly high. In recent years, there has been a surge in studies examining the etiology, risk factors, and management of preterm birth. The use of vaginal probiotics in pregnant women at risk of preterm birth has garnered attention as a potential approach for improving perinatal outcomes and modulating the vaginal microbiota. However, the efficacy of this intervention remains unclear. Therefore, this study explored the impact of vaginal probiotics on perinatal outcomes and vaginal microbiota composition in pregnant women at risk of preterm birth. Materials and Methods: This was a randomized, prospective, longitudinal, double-blind, placebo-controlled, multicentric trial conducted across seven maternities in Spain from October 2017 to August 2022 in pregnant women at risk of preterm birth. Participants were randomly assigned to receive vaginal probiotics containing four lactobacilli strains or a placebo. The primary outcome was to explore a potential correlation between probiotic use among pregnant women at risk of preterm birth and the actual rate of preterm birth before 37 gestational weeks. Secondary outcomes included an evaluation of preterm birth rates, neonatal morbidity, the vaginal microbiota, and changes in the vaginal microbiota after receiving probiotics. Other secondary outcomes were identifying vaginal microbiota patterns associated with preterm birth and exploring potential therapeutic mechanisms involving probiotics. Trial registration: Clinicaltrials.gov, identifier: NCT03689166. Results: A total of 200 participants were included. Of those, birth data were obtained for 181 women. Demographics were similar between both groups. An analysis of perinatal outcomes found no significant differences in preterm birth rates, prematurity rates, gestational weeks at delivery, neonatal complications, time to birth, or latency time to delivery. Microbiota analysis showed no significant differences in vaginal microbiota changes between groups. No serious or unexpected adverse reactions were reported. Conclusions: There were no statistically significant differences for spontaneous preterm birth between pregnant women receiving probiotics and pregnant women receiving the placebo.This work was supported by the Spanish Clinical Research Network (SCReN), which is funded by the ISCIII-General Subdirectorate for Evaluation and Promotion of Research through projects PT17/0017/0030 and PT20/00078. Both projects were integrated into the 2013–2016 National Plan for Scientific and Technical Research and Innovation and co-financed by the European Regional Development Fund (ERDF), “A way of making Europe”. This work was also supported by Project FIS PI 19/00287 (Maria Goya as a principal investigator), which was funded by Instituto de Salud Carlos III (ISCIII) and co-funded by the European Union. Laboratorios Ordesa S.L funded the PROPEV study. L.-A.G.M. was supported by Instituto de Salud Carlos III/FEDER (PI20/00130)
Utility of the ELISpot Test to Predict the Risk of Developing BK Polyomavirus Nephropathy in Kidney Recipients, a Multicenter Study
Full text linkBK polyomavirus nephropathy; Cell-mediated immunity; Kidney transplantationNefropatía por poliomavirus BK; Inmunidad celular; Trasplante renalNefropatia per poliomavirus BK; Immunitat cel·lular; Trasplantament renalBackground: BK polyomavirus (BKPyV) reactivation is a common complication after kidney transplantation and may result in nephropathy and graft loss. As there is no effective antiviral therapy, management focuses on early detection and reduction of immunosuppression, which increases the risk of rejection. Identifying patients at higher risk remains challenging. Monitoring BKPyV-specific T-cell responses could aid in predicting reactivation. This study evaluated the usefulness of ELISpot to monitor BKPyV-specific cellular immunity before and after kidney transplantation. Methods: A prospective multicenter study was conducted between October 2020 and March 2022. ELISpot assays were performed prior to transplantation and two months afterward. Results: Seventy-two patients were included, with a median age of 56 years; 61% were men, and 24% had undergone previous transplantation. Nine patients developed presumptive BKPyV-nephropathy. No significant differences were found in donor type, induction therapy, or rejection rates between patients with or without nephropathy (p = 0.38). Based on ELISpot results, patients were classified into three groups according to their risk of BKPyV-nephropathy. The high-risk group included those who changed from positive to negative at 2 months post-transplant, representing 40% of presumptive BKPyV-nephropathy cases. Patients who remained negative at 2 months were classified as moderate risk (14.5%), while those with a positive ELISpot at 2 months comprised the low-risk group (0%). In the logistic regression analysis, both the ELISpot risk category [OR 19 (CI 1.7–2.08)] and the use of mTOR inhibitors from the start of transplantation [OR 0.02 (CI 0.01–0.46)] were significantly associated with BKPyV-nephropathy. Conclusions: Monitoring BKPyV-specific T cells with ELISpot before and after kidney transplantation may help stratify patients by risk of reactivation. Loss of BKPyV immunity at two months is associated with nephropathy, while mTOR-based immunosuppression appears protective. This strategy could guide personalized immunosuppression and surveillance.This work was supported by the Ministerio de Sanidad y Consumo of Spain (FIS PI19/00608, Instituto de Salud Carlos III) and Marta Balust Foundation
Pla d'enquestes de percepció, experiència i satisfacció d'usuaris del CatSalut (PLAENSA): atenció hospitalària amb internament d'aguts
No full textEnquestes de satisfacció; Atenció hospitalària; Internament d'agutsEncuestas de satisfacción; Atención hospitalaria; Internamiento de agudosSatisfaction surveys; Hospital care; Acute hospitalizationLa desena edició de l’estudi de percepció, experiència i satisfacció amb el servei d’atenció hospitalària amb internament, dut a terme per la Unitat d’Avaluació i Experiència del Pacient en el marc del Pla d’enquestes de percepció, experiència i satisfacció dels usuaris del Servei Català de la Salut (CatSalut), ha mostrat que les persones que han utilitzat aquest servei durant l’any 2025 valoren la satisfacció amb l’atenció rebuda amb un 8,45 sobre 10 de mitjana. A més a més, de les persones que s’han entrevistat, un 90,8% ha respost que “Sí” a la pregunta: “Si poguéssiu triar, continuaríeu venint a aquest hospital?”.
Les preguntes amb una major freqüència de respostes positives són: la “P21. Ajudar a controlar i millorar el dolor”, amb un 96,7% de respostes positives la “P8. Tracte personal de les infermeres i infermers”, amb un 96,5% de respostes positives, i “P19. Informació coherent”, amb un 96,3%.
Aquest estudi compta amb 4.480 casos, procedents del registre d’activitat dels centres proveïdors. Durant aquesta edició de l’any 2025, s’ha utilitzat un qüestionari validat durant l’any 2024, que s’ha tornat a validar després de l’edició d’enguany. El treball de camp s’ha dut a terme entre el 17 i el 20 de març de l’any 2025, utilitzant un qüestionari web amb invitació per SMS
Case Report WIN-MTB-2023001 WIN International Molecular Tumor Board A 62-year-old male with metastatic colorectal cancer with 5 prior lines of treatment
Full text linkCancer; Colorectal carcinoma; Precision oncologyCáncer; Carcinoma colorrectal; Oncología de precisiónCàncer; Carcinoma colorectal; Oncologia de precisióHeavily pretreated metastatic colorectal cancer (mCRC) poses significant therapeutic challenges. Advances in molecular profiling enables personalized strategies. We present a 62-year-old male with mCRC harboring BRAF, MET, APC, TP53 and NRAS alterations, following FOLFOX and FOLFIRI, dabrafenib plus panitumumab, and a BRAF inhibitor clinical trial, each leading to initial responses followed by disease progression.
WIN Consortium International Molecular Tumor Board (MTB), included experts from institutions across 13 countries. Enrollment in suitable clinical trials was explored but limited by availability. Personalized combinations suggested included amivantamab-vmjw (anti-MET/EGFR antibody) (one-third standard dose) (for MET amplification and due to prior response to anti-EGFR antibody), trametinib, 1 mg po daily (MEK inhibitor for BRAF V600E mutation), and regorafenib (may have WNT inhibitor activity relevant to APC mutation; VEGFR activity relevant since TP53 alterations upregulate VEGF/VEGFR axis) starting at 40 mg po daily three weeks on, one week off. Another option was trametinib at 1 mg daily, cetuximab (EGFR antibody), 250 mg/m² IV every two-weeks, and cabozantinib (MET and VEGFR inhibitor), 40 mg po daily. FOLFOXFIRI combined with bevacizumab, or liver-directed therapies for hepatic metastases, or regorafenib with 5FU, or crizotinib (MET inhibitor) combined with regorafenib or dabrafenib, was also suggested.
This case emphasizes the critical role of comprehensive molecular profiling and personalized therapeutic approaches in managing complex mCRC. The WIN International MTB aims to provide treatment and biomarker analysis discussion with the ultimate goal of optimizing treatment efficacy by targeting specific molecular alterations, though final treatment decisions remain at the discretion of the treating physician.The Molecular Tumor Board is fully supported by the Worldwide Innovative Network (WIN) Association - WIN Consortium
A New Next-Generation Sequencing Approach in Human Cytomegalovirus for the Identification of Antiviral Resistance Mutations and Genotypic Classification
Full text linkAntiviral agents; Cytomegalovirus; MutationAgentes antivirales; Citomegalovirus; MutaciónAgents antivirals; Citomegalovirus; MutacióThis study introduces a new procedure for antiviral resistance analysis and genetic classification of human cytomegalovirus (HCMV) using next-generation sequencing (NGS) adapted to existing methodologies, aiming for more targets due to the recent use of new antivirals. It expands the classical investigation of mutations in UL54 and UL97 genes, associated with resistance to (val)ganciclovir, foscarnet and cidofovir, to include UL27, UL56 and UL89 genes, which target newer antivirals like maribavir and letermovir. Additionally, it includes the genetic analysis of UL55 (glycoprotein B) for genotype classification. This new methodology involves multiplex-PCR for DNA enrichment, followed by NGS using Illumina MiSeq platform and data analysis through an in-house pipeline. Several validations were performed by firstly using genome sequence from wild-type sensitive reference strain (AD-169), secondly comparing to previously characterized samples by Sanger, and lastly the use of external quality controls. A new NGS technique based on amplicons approach has been developed. Validation using wild-type control material showed 100% identity with the reference genome across all replicates. Only one minority variant was detected in one replicate. Compared to Sanger sequencing, NGS revealed additional low-frequency mutations not detected by Sanger, without impacting resistance interpretation. The method also performed reliably in external quality assessment controls. Moreover, the detection limit of the technique was established at 17 894.60 IU/mL. Finally, this approach enabled the identification of HCMV genotypes. This approach improves the monitoring of antiviral resistance and viral diversity, enhancing early clinical decision-making in immunocompromised patients
Role of MRI in the Diagnosis of Ductal Carcinoma In Situ: A Retrospective Study
Full text linkBreast imaging; Pure ductal carcinoma in situImatges de mama; Carcinoma ductal pur in situImágenes de mama; Carcinoma ductal puro in situBackground: The use of dynamic magnetic resonance imaging (MRI) for the evaluation, detection, and characterization of ductal carcinoma in situ (DCIS) has been increasing; however, its application in this context remains controversial and uncertain. Materials: A retrospective study including women with pure DCIS, confirmed between January 2012 and December 2022 using ultrasound-guided core-needle biopsy (CNB) or stereotaxy-guided vacuum-assisted biopsy (VAB), was conducted. Mammography, ultrasound (US), and MRI of DCIS lesions were evaluated according to histological grade. The size of the DCIS, as assessed by mammography, US, MRI, and final surgical histopathology, was compared using Lin’s concordance correlation and Bland–Altman plots. Results: A total of 144 women (mean age 55.5 ± 10.3 years) with histopathological diagnoses of pure DCIS and no evidence of infiltration in the percutaneous biopsy were included in the study. Microcalcifications were the most prevalent feature observed in mammography (82.63%). Round/punctate morphology was more common in low-grade lesions, while fine pleomorphic morphology was more frequent in medium- and high-grade lesions. Lesions manifesting as microcalcifications only on mammography were significantly associated with intermediate and high-nuclear grade DCIS (p = 0.005). The most common MRI manifestation of DCIS was non-mass enhancement (86.11%). A total of 141 lesions showed enhancement with MRI (sensibility 97.92%). There were no significant differences (p = 0.29) between negative and positive enhancement with MRI and the histological grade of the lesions. There were no significant differences (p = 0.49) between the type of enhancement curve with MRI and the histological grade. Preoperative MRI detected additional malignancies (multifocal, multicentric, or bilateral) in 35 patients (24.31%). Conclusions: DCIS demonstrated enhancement with MRI regardless of histological grade but overestimated the size of the lesions in low-nuclear-grade DCIS. Preoperative MRI identified additional malignancies (multifocal, multicentric, and bilateral lesions) in 24 patients (16.67%), which were confirmed by histopathological examination. These malignancies were either undetected or not visible with mammography and ultrasound. However, MRI also overestimated the size of the DCIS, leading to three unnecessary mastectomies in our study
EACVI survey on evaluation and quantification of aortic regurgitation by multi-modality imaging
Full text linkAortic regurgitation; Cardiac magnetic resonance; Left ventricleRegurgitació aòrtica; Ressonància magnètica cardíaca; Ventricle esquerreRegurgitación aórtica; Resonancia magnética cardíaca; Ventrículo izquierdoAims: To investigate the real-world, current clinical practice of the assessment and management of aortic regurgitation (AR).
Methods and results: An electronic survey was distributed to cardiovascular imaging specialists by the European Society Association of Cardiovascular Imaging Scientific Initiatives Committee. Three hundred respondents from 66 countries completed the survey. In patients where initial qualitative evaluation suggested moderate AR, regurgitation severity was further characterized using vena contracta in 83%, pressure half-time in 70%, jet width/outflow tract diameter in 59%, regurgitant volume/effective orifice area 57% and three-dimensional vena contract in 20% of respondents. Cardiac magnetic resonance (CMR) was used by 72% of respondents when transthoracic echocardiographic (TTE) image quality was poor and 74% of respondents when there was discordance between Doppler findings and ventricular assessments. CMR 4-dimensional flow was performed by 19% of respondents. Left ventricular (LV) diameters were measured at the mitral valve level by 52% and at the mid LV by 43% of respondents. LV volumes were measured using TTE by 70%, with CMR by 40% and with CT by 2% of respondents.
Conclusion: There is heterogeneity in the echocardiographic methods used to quantify AR. The vena-contracta is the most commonly used for assessment of AR severity with relative underutilisation of quantitative methods. CMR is widely used to assess AR severity when echocardiographic assessments are uncertain. There is variation in the anatomical location to measure LV dilatation and variable use of LV volumes which may impact decision making for intervention
Part I: consensus statements and expert recommendations for HER2-negative early breast cancer in the Asia-Pacific region: diagnosis and risk assessment
Full text linkBRCA germline; Consensus; Breast cancerLínea germinal BRCA; Consenso; Cáncer de mamaLínia germinal BRCA; Consens; Càncer de mamaIntroduction: In the Asia-Pacific region, there is increasing contention on the practical challenges involved in managing human epidermal growth factor receptor 2 (HER2)-negative early breast cancer (eBC). This modified Delphi consensus explores gaps in genetic counselling (GC) and genetic testing (GT), and clinical risk assessment for HER2-negative eBC.
Methods: An expert panel of 16 Asia-Pacific medical oncologists, geneticists, and breast cancer surgeons arrived at 33 statements. The level of statement consensus was considered high at ≥75%. A survey of 134 healthcare practitioners (HCPs) (breast cancer surgeons, geneticists, oncologists, molecular biologists/pathologists) explored the real-world practices in this region.
Results: A consensus was reached for 88% of the statements (29/33) and aligned with international guidelines. Experts reached 100% consensus on offering pretest GC, obtaining consent before GT, considering first diagnosis of breast cancer (BC) as ideal time for GT, offering reflex testing for patients with likely/pathogenic germline BRCA variant, and considering patients with germline BRCA mutant early triple-negative breast cancer (TNBC) patients who do not achieve pathological complete response after neoadjuvant treatment to be at high risk of recurrence. Over 90% of experts supported germline GT for BRCA for TNBC patients irrespective of age at diagnosis or family history and prioritised tumour size and nodal status as prognostic factors for cancer recurrence. Experts reached 80%-90% consensus for using genetic risk assessment tools in low/under-resourced healthcare systems and considering patients with likely/pathogenic variants in BRCA for risk reduction surgery. Significant gaps existed between real-world practices and recommendations, particularly in offering pretest GC to patients with suspected hereditary BC and to blood relatives of patients with BRCA germline pathogenic variant BC, ideal time for GT, considering GT for early TNBC patients irrespective of age, offering post-test GC for positive results, utilising risk assessment tools, and streamlining GC through non-geneticist HCPs.
Conclusion: GT and pretest GC should be mainstreamed at the first diagnosis of BC. Risk assessment for disease recurrence should be performed at diagnosis and post-surgery for HER2-negative eBC patients. These recommendations would help standardise GC and improve GT access for clinical decisions.This study was funded by AstraZeneca and Merck Sharp & Dohme Corp., a subsidiary of Merck & Co., Inc., Rahway, NJ, USA, in accordance with Good Publication Practice (GPP) guidelines, 2022. The funding source had no role in contribution towards study design; writing of the manuscript, consensus protocols, in the collection, analysis, and interpretation of data; and in the decision to submit the paper for publication
Real-Life Effectiveness and Safety of Selective Laser Trabeculoplasty as Primary, Adjunctive, and Substitutive Therapy
Full text linkSelective laser trabeculoplasty; Glaucoma; Laser glaucoma therapyTrabeculoplastia láser selectiva; Glaucoma; Terapia láser para el glaucomaTrabeculoplàstia làser selectiva; Glaucoma; Teràpia làser per al glaucomaObjectives
To assess real-world outcomes of selective laser trabeculoplasty (SLT) in naive patients compared to SLT as adjunctive treatment (AT), investigating SLT’s intraocular pressure (IOP) reduction and its potential to decrease topical medication.
Materials and Methods
Patients undergoing SLT with no prior glaucoma surgery or laser treatment were grouped based on the intended objective: SLT as primary treatment (PT), SLT as AT, and SLT as substitutive treatment (ST). Survival in the PT and AT groups was defined as ≥20% IOP reduction from baseline and IOP ≤21 on two consecutive visits with the same or fewer medications and no additional glaucoma procedure, including repeat SLT. Survival in the ST group was defined as decreasing topical medication while maintaining or reducing IOP.
Results
The study included 120 eyes of 120 patients with a mean follow-up of 32.7 months. The PT group showed superior IOP reduction than the AT group at 24-36 months (22.1% vs. 14.5%, p=0.039). Non-responders comprised 28.6% of the PT group and 37.0% of the AT group. The PT group demonstrated better survival rates than the AT group at 12, 24, and 36 months (69.0% vs. 47.1%, 38.8% vs. 31.4%, and 31.1% vs. 23.5%, respectively). In the ST group, 34.2% of patients were successful at 12 months, increasing to 38.3% at 24 months. At 24 months, 50.0% of patients had reduced at least one medication.
Conclusion
SLT showed two-thirds effectiveness, with one-third being non-responders. It was more effective as PT, with higher IOP reduction and success rates. SLT reduced topical medication in half of patients